ABCB6 Gene Summary [Human]
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
Details
| Type | Retained Intron |
| Official Symbol | ABCB6 |
| Official Name | ATP binding cassette subfamily B member 6 (Langereis blood group) [Source:HGNC Symbol;Acc:HGNC:47] |
| Ensembl ID | ENSG00000115657 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily B member 6 (Langereis blood group), ATP-binding cassette half-transporter |
| Synonyms | 1200005B17Rik, ABC, ATP binding cassette subfamily B member 6, ATP-binding cassette, sub-family B member 6, ATP binding cassette subfamily B member 6 (LAN blood group), LAN, MTABC3, PRP, PSHK2, umat |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCB6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NHLM bacteriocin system ABC transporter, peptidase/ATP-binding protein
- FeS assembly ATPase SufC
- efflux permease
- ATP binding
- Conjugate Transporter-2 (CT2) Family protein
- nitrate transport ATP-binding subunits C and D
- ATPase
- heme ABC exporter, ATP-binding protein CcmA
- heme-transporting ATPase
- thiol reductant ABC exporter, CydC subunit
- energy-coupling factor transporter ATPase
- nickel import ATP-binding protein NikE
- tetrapyrrole binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- ATPase activity, coupled to transmembrane movement of substances
- lipid A export permease/ATP-binding protein MsbA
- glucan exporter ATP-binding protein
- heme binding
- urea ABC transporter, ATP-binding protein UrtE
- ABC transporter transmembrane region
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- thiol reductant ABC exporter, CydD subunit
- Mitochondrial ABC-transporter N-terminal five TM region
- ABC transporter
- ABC transporter, permease/ATP-binding protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- hepatocellular carcinoma
- liver cancer
- isolated microphthalmia with coloboma type 7
- dyschromatosis universalis hereditaria type 3
- familial pseudohyperkalemia 2
- paralysis
- lung adenocarcinoma
- lung adenocarcinoma formation
- progressive familial intrahepatic cholestasis type 1
role in cell
- expression in
- growth
- accumulation in
- proliferation
- survival
- function
- biosynthesis in
- homeostasis in
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- mitochondrial fraction
- mitochondrial envelope
- Nucleus
- Plasma Membrane
- endosomes
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- mitochondrial outer membrane
- mitochondrial inner membrane
- lysosome membrane
- endosomal membrane
- nucleoplasm
- melanosomes
- multivesicular bodies
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCB6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- heme transmembrane transport
- brain development
- heme metabolic process
- skin development
- heme b biosynthetic process
- cellular iron ion homeostasis
- porphyrin-containing compound metabolic process
- porphyrin-containing compound biosynthetic process
- cellular copper ion homeostasis
- tetrapyrrole metabolic process
- heme transport
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- endolysosome membrane
- Golgi membrane
- Golgi apparatus
- endoplasmic reticulum
- mitochondrial outer membrane
- vacuolar membrane
- mitochondrial envelope
- lysosomal membrane
- plasma membrane
- nucleoplasm
- endoplasmic reticulum membrane
- early endosome membrane
- extracellular vesicular exosome
- endosome
- mitochondrion
- cytosol
- multivesicular body membrane
- ATP-binding cassette (ABC) transporter complex
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- tetrapyrrole binding
- efflux transmembrane transporter activity
- heme-transporting ATPase activity
- heme binding